儿童仅伴小脑共济失调桥本脑病13例分析

目的分析仅伴小脑共济失调桥本脑病患儿的临床特征、治疗及预后。方法回顾性分析自2016年1月至2021年5月广州市妇女儿童医疗中心神经内科就诊的13例仅伴小脑共济失调桥本脑病患儿的临床特征、实验室检查、神经电生理检查、影像学、治疗及随访等资料。结果 13例患儿中男6例、女7例。起病年龄2.6(2.0, 3.3)岁。9例首次病程有前驱感染或疫苗接种, 13例步态异常或独坐不稳, 10例意向性震颤, 6例构音障碍, 3例躯体震颤, 2例眼球震颤, 3例精神稍倦, 3例肌力下降, 2例呕吐, 1例脾气暴躁。13例甲状腺球蛋白抗体(TgAb)500.0(298.9, 587.2)kU/L, 甲状腺过氧化物酶抗体(TPOAb)621.9(449.6, 869.4)kU/L, 9例系统性自身抗体阳性, 4例脑脊液白细胞升高;4例脑电图背景慢, 1例偶发尖波;1例复发时头颅磁共振成像示小脑萎缩。10例单次病程, 3例复发病程。13例患儿首次发病首选静脉输注免疫球蛋白联合静脉输注甲泼尼龙冲击治疗, 症状消失, 1例多次复发予利妥昔单抗治疗后复发减少。末次发作后随访25.0(22.5, 33.3)个月, ...     

急性小脑性共济失调11例

目的探讨急性小脑性共济失调(ACA)的早期诊断和治疗方法。方法回顾性分析2003年6月-2008年9月本院收治的11例ACA患儿的临床资料。11例均予常规抗感染治疗,有颅高压等症状者予对症处理,排除结核后使用激素治疗,症状较轻者口服泼尼松片1～2周,逐渐减量至停药;较重者静脉予甲泼尼龙15～20 mg.kg-1.d-1冲击,连用3 d后改泼尼松片口服序贯治疗,1周后逐渐减量至停药。结果11例ACA患儿均临床治愈,3～15 d症状消失,平均住院9.5 d。出院后随访0.5 a,患儿症状均无复发,未见后遗症出现。结论小儿ACA的病因以感染多见,尽早发现行走不稳等共济失调表现及进行神经系统检查有助于早期诊断,一般预后良好,极少遗留后遗症。     

FLAG方案治疗儿童复发性急性淋巴细胞白血病及非霍奇金淋巴瘤短期疗效观察

目的 观察FLAG方案治疗儿童复发性急性淋巴细胞白血病(ALL)及非霍奇金淋巴瘤(NHL)短期疗效及安全性.方法 回顾性分析经FLAG方案[氟达拉滨30 mg/m2,d 1 ～ 5,阿糖胞苷2 g/m2,d 1 ～ 5,粒细胞集落刺激因子5 μg/(kg·d)]治疗的19例复发性ALL和NHL患儿临床资料,其中ALL 15例(初诊时高危8例,中危2例,低危5例),NHL 4例(临床分期为Ⅳ期);早期复发12例,晚期复发7例.观察其疗效、生存时间及不良反应.结果 经1个疗程后,11例(73.3%)ALL患儿达完全缓解(CR),其中高危5例,中危1例,低危5例;2例(50.0%)NHL患儿达CR;6例(50.0%)早期复发患儿达CR,7例(100.0%)晚期复发患儿均达CR,CR率明显高于早期复发患儿(P ＜ 0.05).13例CR患儿,中位无病生存时间5.5个月(2 ～ 12个月).血液学毒性Ⅳ级8例,Ⅲ级4例,Ⅱ级4例;合并感染13例(68.4%),均得到有效控制;肝脏毒性Ⅲ级1例,Ⅰ级2例,经治疗后均恢复.结论 FLAG方案治疗儿童复发性ALL及NHL疗效显著,尤其对于晚期复发患儿疗效较好;不良反应可以耐受.     

儿童白血病造血干细胞移植后免疫性血细胞减少症3例分析

目的探讨白血病造血干细胞移植后免疫性血细胞减少症发生的影响因素,治疗和预后。方法对3例造血干细胞移植后长期存活并发生免疫性血细胞减少症的白血病患儿的临床资料进行回顾性分析。结果在19例移植后长期存活的患儿中,3例发生免疫性血细胞减少症,发生率为16%,男2例,女1例,分别发生在移植后+180 d、+186 d和+384 d;发生年龄分别为8岁、9岁8个月和9岁11个月;1例HLA 6/6相合,2例为5/6相合;均采用无关脐血移植,在预处理中使用兔抗人胸腺细胞免疫球蛋白(ATG)。仅有1例发生移植物抗宿主病(GVHD),2例在植入早期发生巨细胞病毒感染。3例均接受以糖皮质激素为基础的免疫抑制治疗,2例治疗反应良好,停药后无复发,1例需免疫抑制剂维持。结论在本研究中,性别、HLA配型差异、供受者血型不合、GVHD不是造血干细胞移植后免疫性血细胞减少症的危险因素。脐血移植、使用ATG和早期病毒感染可能与造血干细胞移植后免疫性血细胞减少症的发生有关,本病主要治疗手段为以糖皮质激素为基础的免疫抑制治疗。     

单中心19例复发性颅外恶性生殖细胞肿瘤挽救性治疗经验及回顾性分析

目的分析复发性颅外恶性生殖细胞肿瘤(MGCTs)患儿的生存率及预后因素, 探索复发性颅外MGCTs患儿可行的挽救性治疗手段。方法回顾性研究。研究对象为2010年1月至2020年1月上海儿童医学中心收治的复发性颅外MGCTs患儿, 治疗方案包括手术、化疗和放疗。采用Kaplan-Meier生存分析法及Cox风险回归对患儿进行生存率及预后因素分析。结果共收治172例颅外MGCTs患儿, 其中21例复发, 复发率为12.2%, 中位复发时间为治疗结束后11个月, 2例复发患儿因不符合入组标准被剔除, 最终19例进入统计。19例患儿中男10例, 女9例;复发年龄26个月(8～170个月);随访时间57个月(13～122个月)。复发患儿中16例接受挽救性化疗, 14例接受手术完整切除, 4例患儿接受放疗。复发患儿4年总体生存(4yr-OS)率为(82.5±9.2)%(19例), 其中初诊时仅手术未行辅助化疗的患儿, 复发后再治疗的4yr-OS率为(92.3±7.4)% (13例);初诊时接受化疗的患儿, 复发再治疗后4yr-OS率为(60.0±21.9)% (6例), 二者比较差异有统计学意义(...     

经小脑延髓裂入路显微手术治疗儿童第四脑室肿瘤

目的 探讨经小脑延髓裂(CMF)人路显微手术治疗儿童第四脑室肿瘤的方法,提高手术治疗效果.方法 对17例2～14岁原发第四脑室肿瘤患儿,采用枕下正中切口、横窦下颅骨开窗骨瓣成形及经小脑延髓裂入路显微切除肿瘤,其中广泛型CMF切开12例,外侧壁型切开3例,外侧隐窝切开2例;硬脑膜严密缝合或修补,骨瓣复位并固定.结果 肿瘤全切除15例,次全切除2例,病理结果髓母细胞瘤9例,室管膜瘤5例,星形细胞瘤3例,无围手术期死亡发生.术后15例患儿症状体征均明显改善或消失,无新发共济失调、震颤、肌张力降低及脑积水、小脑缄默综合征等并发症.复发2例,均为髓母细胞瘤,2年后死亡1例.结论 经小脑延髓裂人路能较好地显露儿童第四脑室肿瘤,可减少因切开小脑蚓部和向侧方牵拉损伤小脑所导致的并发症发生.     

腹腔镜治疗儿童复发性肠套叠25例

目的探讨腹腔镜在儿童复发性肠套叠中的应用及临床疗效。方法回顾性分析2005年2月至2011年6月在本院就诊的25例复发性肠套叠患儿（复发≥3次）的诊治经过。25例患儿均在腹腔镜监视下行空气灌肠复位,探查病因,并做进一步治疗。结果25例患儿中,13例为原发性肠套叠复发,行腹腔镜下回肠末端悬吊固定术;继发性肠套叠12例,其中美克尔憩室8例,回肠重复畸形1例,回肠息肉2例,均行肠切除肠吻合术;1例过敏性紫癜患儿行空气灌肠复位＋原发病治疗。25例患儿平均随访18个月（10～24个月）,无复发,无肠穿孔、吻合口瘘、肠梗阻等并发症。结论腹腔镜治疗复发性肠套叠可以发现并去除病因,手术创伤小,腹部切口小且隐蔽,有美观优势。     

16例儿童单纯红细胞再生障碍性贫血临床分析

目的 探讨儿童单纯红细胞再生障碍性贫血（PRCA）的临床特点、治疗及预后。方法 回顾性分析16例PRCA患儿的临床资料，并对比分析泼尼松联合槐杞黄颗粒与单纯泼尼松治疗PRCA的疗效及预后等情况。结果 16例患儿均以面色苍白、面色苍黄等贫血症状为主诉。12例进行了病原体检查，7例（58%）存在病原体感染，以人巨细胞病毒最常见。7例行淋巴细胞亚群检查，5例（71%）存在淋巴细胞免疫紊乱。6例患儿行免疫球蛋白及补体检查，均存在异常。泼尼松联合槐杞黄颗粒治疗组（n=8）的中位随访时间为21.5个月，基本治愈1例，缓解1例，明显进步6例，中位起效时间1个月，药物减量或停药过程中出现复发2例。单纯泼尼松治疗组（n=8）的中位随访时间为34个月，基本治愈4例，缓解0例，明显进步4例，中位起效时间为2.5个月，药物减量或停药过程中出现复发4例。结论 PRCA患儿一般以贫血相关症状为主诉就诊；部分患儿存在病原体感染，多数患儿伴有机体免疫功能紊乱。糖皮质激素治疗效果较好，但部分患儿在药物减量或停药过程中复发，其中泼尼松联合槐杞黄颗粒治疗起效可能更快、复发可能性更小。     

单倍体造血干细胞移植治疗幼年型粒单核细胞白血病的临床研究

目的探索单倍体造血干细胞移植(haplo-HSCT)治疗幼年型粒单核细胞白血病(JMML)的效果。方法回顾性分析2013年12月-2017年12月我科收治的12例JMML患儿进行haplo-HSCT的临床资料。男9例,女3例,平均发病年龄3.4(1.1～5.8)岁。采用haplo-HSCT治疗,观察预处理相关毒性、植入、移植物抗宿主病(GVHD)、移植物排斥、复发、感染及生存情况。结果 12例患儿预处理耐受性可;12例患儿全部获造血重建,中性粒细胞植活中位时间19.5(13～25)d,血小板植活中位时间25(12～129)d;移植后28d进行首次骨髓嵌合率检测:8例完全植入,3例混合植入,1例植入失败;aGVHD总发生率92%(11/12),其中Ⅲ～Ⅳ度aGVHD发生率42%(5/12),cGVHD发生率33%(4/12),广泛型cGVHD发生率为0%(0/12);2例并发移植物排斥,其中1例复发,1例经停用免疫抑制处理后再次达完全嵌合;12例患儿中2例复发,复发后1例接受二次移植,1例给予化疗+供者淋巴细胞输注(DLI)后再次达完全缓解。随访至2019年2月,中位随访时间21.5(7～61)个月,2年OS为75%,2年DFS为67%。结论 haplo-HSCT是治疗JMML的有效方法,但植入、GVHD、排斥、复发、感染仍是影响患儿生存的主要因素,优化移植方案及复发后的挽救性治疗方案是提高JMML生存的关键。     

复发性肠套叠的临床特点及治疗

目的 分析小儿复发性肠套叠的临床特点及治疗.方法 回顾性分析2002年1月-2010年12月本院3 730例肠套叠患儿的临床资料,其中复发性肠套叠395例.统计的内容包括一般情况、放射学表现和治疗结果.对于复发病例行进一步评估,并将不同治疗方法的复发率进行比较,分析不同治疗方法和复发之间的关系.应用SPSS 16.0软件进行数据处理.结果 3 730例肠套叠患儿中空气灌肠治疗3 729例,成功整复3 234例(86.7％),复发375例(11.6％).空气灌肠治疗失败后行手术治疗495例,其中单纯手法整复474例,术后20例复发(4.2％);行肠切除21例(11.4％),其中3例存在基础病变:2例存在小肠憩室,1例存在肠系膜囊肿.复发性肠套叠患儿395例,共发生587次肠套叠,复发率为10.6％(395/3 730例).首次发生肠套叠2岁内患儿占84.0％(332/395例).复发时间间隔1d～8a,54.9％的复发性肠套叠发生在6个月内.空气灌肠治疗395例复发性肠套叠,整复成功345例(87.3％),与空气灌肠治疗初次肠套叠的成功率比较无统计学差异(x2=0.044,P＞0.05).结论 复发性肠套叠大多数是非特异性的,空气灌肠是首选治疗方式.开腹手术适用于空气灌肠整复失败、疑有病理诱因或多次复发的患儿.     

Allergic factors associated with the development of asthma and the influence of cetirizine in a double-blind, randomised, placebo-controlled trial: First results of ETA®

There is a common progression known as the allergic march from atopic dermatitis to allergic asthma. Cetirizine has several antiallergic properties that suggest a potential effect on the development of airway inflammation and asthma in infants with atopic dermatitis. Methods. Over a two year period, 817 infants aged one to two years who suffered from atopic dermatitis and with a history of atopic disease in a parent or sibling were included in the ETAC^® (Early Treatment of the Atopic Child) trial, a multi-country, double-blind, randomised, placebo-controlled trial. The infants were treated for 18 months with either cetirizine (0.25mg/ kg b.i.d.) or placebo. The number of infants who developed asthma was compared between the two groups. Clinical and biological assessments including analysis of total and specific IgE antibodies were performed. Results. In the placebo group, the relative risk (RR) for developing asthma was elevated in patients with a raised level of total IgE (≥ 30 kU/I) or specific IgE (≥ 0.35 kUA/I) for grass pollen, house dust mite or cat dander (RR between 1.4 and 1.7). Compared to placebo, cetirizine significantly reduced the incidence of asthma for patients sensitised to grass pollen (RR = 0.5) or to house dust mite (RR = 0.6). However, in the population that included all infants with normal and elevated total or specific IgE (intention-to-treat - ITT), there was no difference between the numbers of infants developing asthma while receiving cetirizine or placebo. The adverse events profile was similar in the two treatment groups. Discussion. Raised total IgE level and raised specific IgE levels to grass pollen, house dust mite or cat dander were predictive of subsequent asthma. Cetirizine halved the number of patients developing asthma in the subgroups sensitised to grass pollen or house dust mite (i.e. 20% of the study population). In view of the proven safety of the drug, we propose this treatment as a primary pharmacological intervention strategy to prevent the development of asthma in specifically sensitised infants with atopic dermatitis.     

Bibliometric data: a disaster for many non-American biomedical journals

Bibliometric data published by the Institute of Scientific Information in Philadelphia (ISI), and which was previously discussed in Acta Paediatrica , has increasingly been used despite all the relevant and severe criticism that has been raised against this method of evaluating individual research results and grading scientific journals. It is obvious that the present trend regarding the use of bibliometric data as a basis for priorities and funding of research and for the promotion of individual scientists favours American-oriented research projects at the expense of those that are based on concepts of predominantly European relevance.

Conclusion: For the future of non-American research, it is important that no single super-power, i.e. the USA, should dominate scientific priorities. The condition for efficient European competition is that European Centres with high levels of competence for creative research and training of scientists from all over the world are established. In addition, it is important that the results of European research are published in prestigious European journals, as was the situation before World War II.     

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孤独症谱系障碍(autistic-spectrum disorders,ASDs)近年来患病率逐年攀升至1%左右,其症状往往伴随终生,成为严重威胁儿童健康和发展的神经发育性疾患;注意缺陷多动障碍(attention deficit hyperactivity disorder,ADHD)是儿童期最常见的精神障碍,国内报道患病率为4.13%～5.83%,其症状可延续至青少年期,甚至到成年期[1]。这两类精神障碍在成年期的临床表现、共患病、治疗策略和预后与儿童期有哪些不同呢?本文通过回顾相     

Infiltrations of Epstein-Barr virus-carrying cells in granular lymphocyte-proliferative disorders corresponding to chronic active Epstein-Barr virus infection

A 21-year-old man with granular lymphocyte-proliferative disorders (GLPD) associated with chronic active Epstein-Barr virus (EBV) infection is described. Chromosomal analyses revealed several clonal abnormalities and two of them were mainly repetitious. High copy numbers of monoclonal EBV genome were also detected in the proliferative large granular lymphocytes (LGLs), indicating the monoclonal expansion of EBV-infected LGLs. The patient had an indolent course for several years, and there was no evidence of infiltrations of his bone marrow until the end stage. At autopsy, microscopic studies revealed marked infiltrations of LGL in the liver and spleen, and the infiltrating cells were NK-cell immunophenotype. The infiltrated LGLs showed latency I.     

LUTEINIZING HORMONE RECEPTOR MUTATIONS IN DISORDERS OF SEXUAL DEVELOPMENT AND CANCER

Human male sexual development is regulated by chorionic gonadotropin (CG) and luteinizing hormone (LH). Aberrant sexual development caused by both activating and inactivating mutations of the human luteinizing hormone receptor (LHR) have been described. All known activating mutations of the LHR are missense mutations caused by single base substitution. The most common activating mutation is the replacement of Asp-578 by Gly due to the substitution of A by G at nucleotide position 1733. All activating mutations are present in exon 11 which encodes the transmembrane domain of the receptor. Constitutive activity of the LHR causes LH releasing hormone-independent precocious puberty in boys and the autosomal dominant disorder familial male-limited precocious puberty (FMPP). Both germline and somatic activating mutations of the LHR have been found in patients with testicular tumors. Activating mutations have no effect on females. The molecular genetics of the inactivating mutations of the LHR are more variable and include single base substitution, partial gene deletion, and insertion. These mutations are not localized and are present in both the extracellular and transmembrane domain of the receptor. Inactivation of the LHR gives rise to the autosomal recessive disorder Leydig cell hypoplasia (LCH) and male hypogonadism or male pseudohermaphroditism. Severity of the clinical phenotype in LCH patients correlates with the amount of residual activity of the mutated receptor. Females are less affected by inactivating mutation of the LHR. Symptoms caused by homozygous inactivating mutation of the LHR include polycystic ovaries and primary amenorrhea.     

EXCITING NEW TREATMENT APPROACHES FOR PATHYPHYSIOLOGIC MECHANISMS OF SICKLE CELL DISEASE

During the past several decades, our understanding of the complex pathophysiology of vasoocclusion associated with sickle cell disease has improved greatly. Interaction of genes, hemoglobin molecules, red cell membrane and metabolic changes, cell-cell interactions and cell-plasma interactions, red cell adhesion to vascular endothelium, activation of coagulation, and vascular reactivity play a role in vaso occlusion. Penicillin prophylaxis of pneumococcal infections and appropriate use of blood transfusions and other supportive measures improved survival of sickle cell patients. Hydroxyurea made a major impact on sickle cell therapy when it was shown to decrease acute painful episodes, acute chest syndrome, and the need for blood transfusion in adults. Significant experience in the use of hydroxyurea has been accumulated in older children. The benefits and risks of hydroxyurea for younger children and long-term risks in all patients will be evaluated in future investigations. Other promising therapies include butyrate compounds, clotrimazole, magnesium supplementation, poloxamer 188, antiadhesion agents, anticoagulant approaches, and nitric oxide. Hemopoietic transplantation remains the only curative therapy. However, several transgenic mouse models are available for studies of gene therapy or other treatment approaches on biochemical, cellular, and pathologic effects of mutant genes.     

Personality profiles and heart rate variability (vagal tone) in children with recurrent abdominal pain

The aim of the study was to explore psychological factors and autonomic activity in children with recurrent abdominal pain and to compare them with those in a control group of healthy children. The Personality Inventory for Children was used for assessment of developmental, emotional and psychosocial factors in 25 children with recurrent abdominal pain (age, 7-15 y). Parasympathetic and sympathetic functions in these children and in 23 healthy control subjects (age, 7-13 y) were also investigated, non-invasively using a computerized polygraph. Vagal tone (parasympathetic function) was indexed by calculation of respiratory sinus arrhythmia in beats/min. Skin conductance (sympathetic function) was recorded by the constant current method. On the Personality Inventory for Children, 16 patients had high scores on somatic concern. Several patients had scores in the clinical range for depression, withdrawal and anxiety, but the mean scores for these personality profile scales were well within the normal range of healthy children. Interestingly, there was a spike on the L (Lie)-scale for most of the patients and 15 patients had scores above or close to the clinical cut-off value. As compared with the scores in healthy children, vagal tone and sympathetic tone were normal. Conclusion: Many children with recurrent abdominal pain have scores in the clinical range for depression, withdrawal, anxiety and L-scale indicating coping problems, denial and a trend towards somatic concern that may contribute to the evolution of abdominal pain. Autonomic nerve activity was not disturbed in these children.     

alpha -SMOOTH MUSCLE ACTIN DISTRIBUTION IN THE PULMONARY VASCULATURE COMPARING HYPOPLASTIC AND NORMAL FETAL LUNGS

We investigated the intra-acinar pulmonary vascular muscularization in the developing human fetal lung between the 17th and 24th gestational weeks, that is, during the canalicular phase of lung development. Fifteen hypoplastic and 25 normal developed lungs were included in this study using monoclonal alpha -smooth muscle (sm) actin antibodies for smooth muscle detection. Computer-aided image analysis was performed for morphometrical measurements and statistical evaluation. Alphasm-actin-immunoreactive intra-acinar vessels down to a luminal diameter of less than 10 mu m were detected in hypoplastic as well as in normally developed lungs. Crucial differences presented as follows: significantly higher density of intra-acinar vessels, especially due to alpha -sm-actin-negative vessels less than 30 mu m in luminal diameter, in the control group; significantly higher alpha -sm-actin immunoreactivity per section unit as well as per vessel in the hypoplastic lung group. As suggested by others, alpha-sm-actin-positive cells of the intra-acinar vessel wall in the developing human lung were demonstrated to be smooth muscle cells, their immediate precursors, and pericytes. We conclude that the increased alpha -sm-actin immunoreactivity represents muscularization of the vessel wall in functional terms and may be regarded as one structural cause among others for the establishment of persistent fetal circulation in hypoplastic lungs.     

Overcoming surfactant inhibition with polymers

Inhibition of the function of pulmonary surfactant in the alveolar space is an important element of the pathophysiology of many lung diseases, including meconium aspiration syndrome, pneumonia and acute respiratory distress syndrome. The known mechanisms by which surfactant dysfunction occurs are (a) competitive inhibition of phospholipid entry into the surface monolayer (e.g. by plasma proteins), and (b) infiltration and destabilization of the surface film by extraneous lipids (e.g. meconium-derived free fatty acids). Recent data suggest that addition of non-ionic polymers such as dextran and polyethylene glycol to surfactant mixtures may significantly improve resistance to inhibition. Polymers have been found to neutralize the effects of several different inhibitors, and can produce near-complete restoration of surfactant function. The anti-inhibitory properties of polymers, and their possible role as an adjunct to surfactant therapy, deserve further exploration.